gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.20103799 (AFR)
Genomes Max Group AF
0.19828899 (AFR)
Exomes Max Group AF
0.20196118 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.1781033G>A , CM000674.2:g.1781033G>A | GRCh38 |
| NC_000012.11:g.1890199G>A , CM000674.1:g.1890199G>A | GRCh37 |
| NC_000012.10:g.1760460G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357103.5:c.795G>A MANE Select | ENSP00000349616.4:p.Gln265= | |
| ENST00000357103.4:c.795G>A | ENSP00000349616.4:p.Gln265= | |
| NM_024551.2:c.795G>A | NP_078827.2:p.Gln265= | |
| XM_005253789.1:c.795G>A | XP_005253846.1:p.Gln265= | |
| XM_006719018.1:c.795G>A | XP_006719081.1:p.Gln265= | |
| XM_011521024.1:c.795G>A | XP_011519326.1:p.Gln265= | |
| XM_011521025.1:c.464-2847G>A | XP_011519327.1:n.464-2847G>A | |
| XM_005253789.2:c.795G>A | XP_005253846.1:p.Gln265= | |
| XM_006719018.2:c.795G>A | XP_006719081.1:p.Gln265= | |
| XM_011521024.2:c.795G>A | XP_011519326.1:p.Gln265= | |
| NM_024551.3:c.795G>A MANE Select | NP_078827.2:p.Gln265= | |
| NM_001375363.1:c.795G>A | NP_001362292.1:p.Gln265= | |
| NM_001375364.1:c.795G>A | NP_001362293.1:p.Gln265= | |
| NM_001375365.1:c.795G>A | NP_001362294.1:p.Gln265= |